FIP1L1-PDGFRA gene rearrangement in Indore
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Age Group 05-90 years
Recommended for Men, Women
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FIP1L1-PDGFRA gene rearrangement1
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How long does it take to receive test results?
Though most tests are completed and reported within about 24 hours of receiving the sample for testing, certain tests take several days to weeks.
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Is there any preparation or precautions for patient before tests or body checkup?
Fasting maybe required in case of a few tests to ensure accurate results.
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FIP1L1-PDGFRA Gene Rearrangement Test in Indore
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Sterling Accuris Diagnostics offers the FIP1L1-PDGFRA Gene Rearrangement Test in Indore, a critical diagnostic tool for certain blood disorders.
Overview of the FIP1L1-PDGFRA Gene Rearrangement Test
This test detects explicitly the FIP1L1-PDGFRA gene rearrangement, a genetic abnormality often associated with certain myeloproliferative disorders, including Chronic Eosinophilic Leukemia (CEL).
The FIP1L1-PDGFRA genetic mutation, a rare condition, causes an overproduction of eosinophils, a type of white blood cell. This mutation is an uncommon cause of hypereosinophilia (HE) and hypereosinophilic syndrome (HES). It occurs due to a specific deletion on chromosome 4q12, involving the loss of the CHIC2 gene, leading to the abnormal activation of the PDGFRA tyrosine kinase. Common symptoms of this condition include cough, shortness of breath (dyspnea), generalised weakness, skin rash, and rhinitis. Persistent high levels of eosinophils can affect various organs, including the heart, and may lead to complications like endomyocardial fibrosis, significantly increasing the risk of death.
The FIP1L1-PDGFRA gene rearrangement is crucial in diagnosing and treating these disorders, as it suggests a specific type of disease progression and response to therapy.
Why and When is the FIP1L1-PDGFRA Gene Rearrangement Test Done?
The test is recommended for:
- Individuals showing symptoms suggestive of myeloproliferative disorders, such as unexplained fatigue, weakness, weight loss, or splenomegaly (enlarged spleen).
- Patients with elevated eosinophil count in the blood without a clear cause.
- Ongoing monitoring and management of diagnosed myeloproliferative disorders.
FIP1L1-PDGFRA Gene Rearrangement Test: Main Highlights
- Instructions: No special fasting is required. A doctor’s prescription is essential.
- Recommended Age: Suitable for all ages, particularly in suspected cases of myeloproliferative disorders.
- Sample Type for Test: A blood sample or bone marrow aspirate is typically used, collected in an EDTA tube.
- TAT: Results are generally available within 2-3 weeks.
FAQs
What does a positive result indicate?
A positive result for the FIP1L1-PDGFRA rearrangement indicates a specific subtype of myeloproliferative disorder, which can significantly guide treatment and management.
What is the importance of detecting this gene rearrangement?
Identifying this specific genetic change helps accurately diagnose the condition and can indicate a good response to targeted therapies.
What are the methods used for this test?
The FIP1L1-PDGFRA Gene Rearrangement Test typically uses a method known as Fluorescence In Situ Hybridization (FISH) or Polymerase Chain Reaction (PCR) testing. These methods are chosen for their ability to detect the specific genetic changes associated with this condition:
Fluorescence In Situ Hybridization (FISH): FISH is a cytogenetic technique that uses fluorescent probes to bind to specific parts of a chromosome. It can visually locate the presence or absence of specific DNA sequences on chromosomes. In the case of FIP1L1-PDGFRA, FISH can identify the deletion on chromosome 4q12 that leads to the formation of abnormal gene fusion.
Polymerase Chain Reaction (PCR): PCR is a molecular technique used to amplify a segment of DNA, making it possible to analyse it in detail. In detecting FIP1L1-PDGFRA, PCR can amplify and see the specific DNA sequences indicative of the gene rearrangement.
Both methods are susceptible and specific, making them suitable for detecting the cryptic genetic changes characteristic of FIP1L1-PDGFRA rearrangement.
Are there any risks associated with this test?
The test involves a standard procedure for collecting a blood or bone marrow sample, which carries minimal risks typical of such procedures.
Choosing Sterling Accuris Diagnostics for the FIP1L1-PDGFRA Gene Rearrangement Test in Indore.
At Sterling Accuris Diagnostics, we utilise advanced genetic testing techniques to provide accurate and reliable results. Our commitment to quality and precision ensures patients receive the best diagnostic care. Opt for our home collection service in Indore for a comfortable and convenient testing experience. Ensure accurate diagnosis and effective treatment. Book the FIP1L1-PDGFRA Gene Rearrangement Test with Sterling Accuris in Indore today.
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